Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7039
Gene Symbol: TGFA
TGFA
0.030 AlteredExpression disease BEFREE Endoscopy and pathology findings were consistent with Ménétrier disease; however, gastric transforming growth factor α (TGF-α) immunohistochemistry and real-time polymerase chain reaction showed no increase in TGF-α expression. 22711003 2012
Entrez Id: 7039
Gene Symbol: TGFA
TGFA
0.030 AlteredExpression disease BEFREE To explain the association of juvenile polyposis syndrome with Ménétrier's disease we hypothesized a new mechanism that involves TGFβ-SMAD4 pathway inactivation and TGFα overexpression related to Helicobacter pylori infection. 22748914 2012
Entrez Id: 7039
Gene Symbol: TGFA
TGFA
0.030 Biomarker disease BEFREE Possible role of transforming growth factor alpha in the pathogenesis of Ménétrier's disease: supportive evidence form humans and transgenic mice. 1451986 1992
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
0.020 GeneticVariation disease BEFREE A dominant 1244_1247delACAG mutation of SMAD4 was identified in each of the subjects with JPS as well as in each of the subjects with MD. 27375208 2016
Entrez Id: 3651
Gene Symbol: PDX1
PDX1
0.020 Biomarker disease BEFREE We investigated mutations of the candidate genes SMAD4, BMPR1A, TGF-α, and PDX1 within a family with MD. 27375208 2016
Entrez Id: 3651
Gene Symbol: PDX1
PDX1
0.020 AlteredExpression disease BEFREE Juvenile polyposis syndrome with gastric involvement may mimic Ménétrier's disease, which is correlated to transforming growth factor (TGF)α overproduction and PDX1 upregulation in the gastric fundus. 22748914 2012
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
0.020 AlteredExpression disease BEFREE To explain the association of juvenile polyposis syndrome with Ménétrier's disease we hypothesized a new mechanism that involves TGFβ-SMAD4 pathway inactivation and TGFα overexpression related to Helicobacter pylori infection. 22748914 2012
Entrez Id: 142678
Gene Symbol: MIB2
MIB2
0.010 GeneticVariation disease BEFREE Expression of both MIB2 variants affected NOTCH signalling, proliferation and apoptosis in primary rat cardiomyocytes.In conclusion, we report the first example of left ventricular hypertrabeculation/LVNC with germline MIB2 variants resulting in altered NOTCH signalling that might be associated with a gastropathy clinically overlapping with Ménétrier disease. 28013292 2017
Entrez Id: 3082
Gene Symbol: HGF
HGF
0.010 Biomarker disease BEFREE Helicobacter pylori isolated from a patient with Ménétrier's disease showed the highest hepatocyte growth factor (HGF) and TNF-alpha mRNA expressions from gastric fibroblasts, and the highest TNF-alpha expression from MKN45 cells. 17990109 2008
Entrez Id: 864
Gene Symbol: RUNX3
RUNX3
0.010 Biomarker disease BEFREE Loss of Runx3 function in leukocytes is associated with spontaneously developed colitis and gastric mucosal hyperplasia. 15514019 2004
Entrez Id: 5897
Gene Symbol: RAG2
RAG2
0.010 Biomarker disease BEFREE RAG2-deficient mice inoculated orally with T. taeniaeformis eggs developed gastric hyperplasia with alcian blue-periodic acid-Schiff-positive cell proliferation similar to those of rats. 11880230 2002
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
0.010 GeneticVariation disease BEFREE Targeted disruption of the Kvlqt1 gene causes deafness and gastric hyperplasia in mice. 11120752 2000